Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jadwiga Wigowska-Sowińska"'
Autor:
Agnieszka Dzikiewicz-Krawczyk, Iwona Ziółkowska-Suchanek, Sylwia Kołtan, Ryszard Słomski, Jacek Pilch, Jadwiga Wigowska-Sowińska, Agnieszka Stembalska, Maria Mosor, Marta Podralska, Aleksandra Lewandowicz-Uszyńska, Barbara Pietrucha, Ryszard Ślęzak
Publikováno v:
Molecular Genetics & Genomic Medicine
Inherited biallelic mutations of the ATM gene are responsible for the development of ataxia telangiectasia (AT). The objective of the present study was to conduct molecular analysis of the ATM gene in a cohort of 24 Polish patients with ataxia-telang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6300032cdeb11bd3aa427e7e4169f6b8
https://doi.org/10.1002/mgg3.98
https://doi.org/10.1002/mgg3.98
Autor:
Dobrawa Napierała, Ryszard Słomski, Jadwiga Wigowska-Sowińska, David J. Kwiatkowski, J. Kwiatkowska
Publikováno v:
New England Journal of Medicine. 340:703-707
Mosaicism is the phenomenon in which a fraction of, rather than all, germ-line and somatic cells contain a mutation or chromosomal abnormality. It occurs in all genetic disorders in which spontaneous mutations occur and has important clinical consequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::732c83fde187596ad2722f5e6d2c0894
https://doi.org/10.1056/nejm199903043400905
https://doi.org/10.1056/nejm199903043400905
Autor:
F. Hall, Jolanta Kasprzyk-Obara, Elizabeth P. Henske, P. McNAMARA, Jadwiga Wigowska-Sowińska, S. Jozwiak, M. P. Short, Jonathan L. Haines, David J. Kwiatkowski, J. Kwiatkowska, J. Braiser
Publikováno v:
Annals of Human Genetics. 62:277-285
We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex analysis of amplified exons in 13 families with genetic linkage to the TSC1 region, 22 small families without linkage informa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e04eba6282b62210a3e0e4daa9f574
https://doi.org/10.1046/j.1469-1809.1998.6240277.x
https://doi.org/10.1046/j.1469-1809.1998.6240277.x
Autor:
Jadwiga Wigowska-Sowińska
Publikováno v:
Acta Histochemica. 69:187-205
Summary Organic Mercury compounds are known for their neurotoxicity. From our previous studies it appeared that a variable degree of damage is brought about in the individual structures of the CNS by ingestion of organic mercurials. A detailed study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::197fce3175cc874c6c19d1bf16b5177a
https://doi.org/10.1016/s0065-1281(81)80031-1
https://doi.org/10.1016/s0065-1281(81)80031-1
Publikováno v:
Toxicology and applied pharmacology. 53(1)
The effect of the administration by methoxyethyl-mercuric chloride (Ceresan) on the activity of phosphatases and esterases of the rat brain was studied. From the observations made in this study it appears that ingestion of Ceresan, a fungicide of wid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a292efe0ea615a41a7ab22b4efa0554
https://pubmed.ncbi.nlm.nih.gov/6446174
https://pubmed.ncbi.nlm.nih.gov/6446174